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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COMP Gene

protein-coding GIFtS: 69
GCID: GC19M018894

cartilage oligomeric matrix protein

(Previous names: cartilage oligomeric matrix protein (pseudoachondroplasia,...)
(Previous symbols: PSACH, EDM1, EPD1)

Explore 46 diseases affiliated with
COMP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cartilage Oligomeric Matrix Protein¹ ²		Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple)¹ ²
EDM1¹ ² ⁵		TSP5² ³
MED¹ ² ⁵		Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple)²
PSACH¹ ² ⁵		Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple)²
EPD1¹ ²		Thrombospondin-5³
THBS5¹ ²		Thrombospondin-5³

External Ids:	HGNC: 2227¹	Entrez Gene: 1311²	Ensembl: ENSG00000105664⁷	OMIM: 600310⁵	UniProtKB: P49747³

Export aliases for COMP gene to outside databases

Previous GC identifers: GC19M019387 GC19M019285 GC19M018738 GC19M018754 GC19M018458

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COMP:

The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical

glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results

from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears

to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple

epiphyseal dysplasia (MED). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747

Function: May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix

proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage

extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis

of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses

apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2,

BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype

under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By

similarity)

Gene Wiki entry for COMP (Cartilage oligomeric matrix protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COMP gene promoter:
Sp1 p300
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COMP promoter sequence

Search SABiosciences Chromatin IP Primers for COMP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COMP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.1

COMP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COMP gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M018894: view genomic region (about GC identifiers)

Start:	18,893,583 bp from pter	End:	18,902,123 bp from pter
Size:	8,541 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747 (See protein sequence)

Recommended Name: Cartilage oligomeric matrix protein precursor

Size: 757 amino acids; 82860 Da

Cofactor: Binds 11-14 calcium ions per subunit

Subunit: Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more

extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the

presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of

Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA

dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate.

Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions.

Interacts with ADAMTS12. Interacts with ITGA7 (By similarity)

Subcellular location: Secreted, extracellular space, extracellular matrix

Developmental stage: Present during the earliest stages of limb maturation and is later found in regions where the

joints develop

Sequence caution: Sequence=AAB86501.1; Type=Erroneous gene model prediction;

1 PDB 3D structure from and Proteopedia for COMP:

3FBY (3D)

Secondary accessions: O14592 Q16388 Q16389 Q2NL86 Q8N4T2

Explore the universe of human proteins at neXtProt for COMP: NX_P49747

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49747

COMP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000086.2

ENSEMBL proteins:

ENSP00000450329 ENSP00000439156 ENSP00000222271 ENSP00000403792

Human Recombinant Protein Products:

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	Uscn Proteins for COMP

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	--	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

COMP for ontologies About GeneDecksing

COMP Antibody Products:

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	Abcam antibodies for COMP
	Uscn Antibodies for COMP
	ThermoFisher Antibodies for COMP

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	Uscn ELISAs and CLIAs for COMP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COMP for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR000742 EG-like_dom

IPR013320 ConA-like_subgrp

IPR018097 EGF_Ca-bd_CS

IPR008859 Thrombospondin_C

IPR003367 Thrombospondin_3-like_rpt

Graphical View of Domain Structure for InterPro Entry P49747

ProtoNet protein and cluster: P49747

2 Blocks protein families:

IPB001881 EGF-like calcium-binding

IPB008859 Thrombospondin

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747

Domain: The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP

family of survival proteins and the antiapoptotic response

Domain: The TSP C-terminal domain mediates interaction with FN1 and ACAN

Domain: Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions

Similarity: Belongs to the thrombospondin family

Similarity: Contains 4 EGF-like domains

Similarity: Contains 1 TSP C-terminal (TSPC) domain

Similarity: Contains 8 TSP type-3 repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747

Function: May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix

proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage

extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis

of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses

apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2,

BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype

under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By

cartilage oligomeric matrix glycoprotein (524kDa),cell adhesion molecule,thrombospondin family

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COMP

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	7713493
GO:0005509	calcium ion binding	IDA	11084047
GO:0005515	protein binding	IPI	16051604
GO:0005518	collagen binding	IDA	11084047
GO:0008201	heparin binding	IDA	17588949

COMP for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for COMP:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Comp^tm1Aol for COMP
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Comp):

behavior/neurological	growth/size	immune system	limbs/digits/tail	muscle
normal	skeleton

COMP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Focal Adhesion

Focal Adhesion

1.00

Focal adhesion

0.66

Articular Cartilage Extracellular Matrix

Articular Cartilage Extracellular Matrix

1.00

Malaria

Malaria

1.00

ECM-receptor interaction

ECM-receptor interaction

1.00

Phagosome

Phagosome

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for COMP

Articular Cartilage Extracellular Matrix

1 BioSystems Pathway for COMP

Focal Adhesion

5 Kegg Pathways (Kegg details for COMP):

	Phagosome
	TGF-beta signaling pathway
	Focal adhesion
	ECM-receptor interaction
	Malaria

COMP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COMP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/30 Interacting proteins for COMP (P49747³ ENSP00000222271⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FN1	P02751³, ENSP00000346839⁴	I2D: score=1 STRING: ENSP00000346839
COL2A1	P02458³, ENSP00000369889⁴	I2D: score=1 STRING: ENSP00000369889
COL9A1	P20849³, ENSP00000349790⁴	I2D: score=1 STRING: ENSP00000349790
CD36	ENSP00000308165⁴	STRING: ENSP00000308165
CD47	ENSP00000355361⁴	STRING: ENSP00000355361

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	7670472
GO:0003417	growth plate cartilage development	IEA	--
GO:0006915	apoptotic process	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0009887	organ morphogenesis	TAS	7713493

COMP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

COMP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COMP

1 DrugBank Compound for COMP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Calcium	--	--	target	--	17588949

10/36 Novoseek chemical compound relationships for COMP gene (see all 36) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
keratan sulfate	64.4	26	9920012 (3), 17855425 (2), 11840444 (2), 15990991 (2) (see all 8)
alginate	49.2	1	11748585 (1)
glycosaminoglycan	45.3	6	19929469 (1), 16319098 (1), 19276170 (1)
hyaluronic acid	43.2	18	16870091 (5), 19404937 (1), 12734904 (1), 16396978 (1) (see all 7)
pentosidine	40.8	5	15023379 (2), 17298211 (1), 15897309 (1)
deoxypyridinoline	38	7	10806045 (1), 16899502 (1), 12734904 (1), 19358841 (1)
pyridinoline	36.9	8	10806045 (1), 16899502 (1), 17907159 (1), 12734904 (1)
tgf beta1	33.4	11	16868970 (4), 9627009 (2), 18408251 (2)
dermatan sulfate	32	3	17532798 (1), 16761970 (1)
chondroitin sulfate	28	8	19217557 (1)

Search CenterWatch for drugs/clinical trials and news about COMP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COMP gene:

NM_000095.2

Unigene Cluster for COMP:

Cartilage oligomeric matrix protein

Hs.1584 [show with all ESTs]

Unigene Representative Sequence: BC033676

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000547160 ENST00000542601(uc002nkd.3) ENST00000222271(uc002nke.3 uc010xqj.2)

ENST00000425807 ENST00000546510

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Additional cDNA sequence:

AB086984.1 AK074508.1 AK223216.1 AK290595.1 AK296586.1 AK297798.1 AK297814.1 BC033676.1

BC110847.1 BC125092.1 L32137.1

7 DOTS entries:

DT.100042006 DT.100042013 DT.121465335 DT.121465312 DT.97847816 DT.100823215 DT.97847817

24/324 AceView cDNA sequences (see all 324):

H13980 CD519980 BQ180997 NM_000095 AU120397 AW451635 BC033676 CB216257

AU120554 BQ007673 CA414552 CR621154 CA413455 BG926739 BQ183414 BG928843

BG900192 BQ181523 BQ183858 CN479903 CA447319 CA427791 BQ181688 BQ045048

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for COMP About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19
SP1:																													-
SP2:																													-
SP3:											-		-
SP4:													-		-		-
SP5:

ECgene alternative splicing isoforms for COMP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COMP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGGGGTGGCC

About this image

COMP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Chondrocytes

Selective marker (cell-identifying gene)

Bone, Cartilage

Bone

Autopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Bone

Caudal Endochondral Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Endochondral Facial Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Rostral Endochondral Facial Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Stylopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Bone

Stylopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Bone

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Bone

Zeugopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Cartilage

Rostral Synchondroses

Chondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/25 LifeMap Cells (see all 25)

Name

Category

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Articular chondrocyte-like cells (HyStem chondrogenic ...)

Cartilage

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

Micromass-induced chondrocytes (Micromass chondrogen...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

Micromass-induced chondrocytes (Micromass chondrogen...)

Bone, Cartilage

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See COMP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COMP

SOURCE GeneReport for Unigene cluster: Hs.1584

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747

Tissue specificity: Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon,

ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the

area adjacent to the main defect

SABiosciences Expression via Pathway-Focused PCR Arrays including COMP:

Osteogenesis in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COMP gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COMP¹	cartilage oligomeric matrix protein	69.8(n) 75.1(a)		420120 XM_418238.3 XP_418238.2
lizard (Anolis carolinensis)	Reptilia	COMP⁶	--	76(a)	1 ↔ 1	GL344783.1(3877-17985)
zebrafish (Danio rerio)	Actinopterygii	im:7154332¹	im:7154332	67.93(n) 72.27(a)		100318854 XM_002663706.2 XP_002663752.2
fruit fly (Drosophila melanogaster)	Insecta	Tsp^{1 , 3}	cell adhesion molecule³ Thrombospondin¹	50(a)³ 56.67(n)¹ 52.02(a)¹		33941¹ NM_078771.2¹ NP_523495.2¹

ENSEMBL Gene Tree for COMP (if available)
TreeFam Gene Tree for COMP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COMP gene

THBS1² THBS4² THBS3² THBS2²

5 SIMAP similar genes for COMP using alignment to 4 protein entries: COMP_HUMAN (see all proteins):

THBS3 THBS4 DKFZp686G02190 THBS1 THBS2

COMP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28936368^1,2	C,F,	pathogenic	18458381(-)	`CCATGA/C/TGGGGT`	3	R W	syn¹ mis¹ ese³		3		NS NA	4674
rs28936669^1,2	C	pathogenic	18461288(-)	`CGACGA/GCAATG`	2	D G	mis¹ ese³		2		NA	4
rs76936388^1,2	C,	--	18457560(+)	`GAAACG/ATAATA`	1	--	ds500¹		2		NA	122
rs10412089^1,2	C,F,H	--	18457678(+)	`CCTTCC/TGAACA`	1	--	ds500¹		8		NS EA NA	1086
rs112880033^1,2	C,	--	18457681(+)	`TCCGAACAC/- ACACA`	1	--	ds500¹		1		CSA	2
rs112004709^1,2	C,	--	18457773(+)	`ATCCT-/GGGGCG`	1	--	ds500¹		1		CSA	2
rs4808155^1,2	C,F,H,	--	18458932(+)	`tctccA/Gctcac`	1	--	int¹		6		NA CSA EA	247
rs111301851^1,2		--	18459289(+)	`ACCACG/ACCTGG`	1	--	int¹		1		CSA	2
rs75729528^1,2	C,	--	18459609(+)	`AGACTC/TCACAG`	2	K E	mis¹		0	--	--	--	--
rs12327739^1,2	C,F,H,	--	18459709(+)	`AGGTGG/ATGGGC`	1	--	int¹		6		NS EA NA	526

HapMap Linkage Disequilibrium report for COMP (18893583 - 18902123 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COMP: --
Human Gene Mutation Database (HGMD): COMP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COMP

DNA2.0 Custom Variant and Variant Library Synthesis for COMP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COMP for disorders           About GeneDecksing

OMIM gene information: 600310
OMIM disorders: 177170  132400
UniProtKB/Swiss-Prot: COMP_HUMAN, P49747

Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]. EDM is a

generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and

short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and

the milder Ribbing types

Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:177170]. PSAC is a dominantly inherited

chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is

recognized in early childhood

20/46 diseases for COMP (see all 46): About MalaCards

epiphyseal dysplasia multiple epiphyseal dysplasia pseudoachondroplasia osteochondrodysplasia

multiple epiphyseal dysplasia, dominant langer mesomelic dysplasia mesomelic dysplasia spondyloepiphyseal dysplasia congenita

thanatophoric dysplasia hemophilic arthropathy spondyloepiphyseal dysplasia diastrophic dysplasia

relapsing polychondritis short stature achondroplasia lupus erythematosus

arthropathy achondrogenesis brachydactyly systemic lupus erythematosus

8 diseases from the University of Copenhagen DISEASES database for COMP:

Pseudoachondroplasia Multiple epiphyseal dysplasia Osteoarthritis Rheumatoid arthritis

Diastrophic dysplasia Tendinitis Synovitis Spondyloepimetaphyseal dysplasia

10/44 Novoseek disease relationships for COMP gene (see all 44) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
psach	98.3	317	11691584 (5), 12768438 (5), 15266613 (5), 17570134 (5) (see all 79)
multiple epiphyseal dysplasia	97.6	91	15749701 (2), 15880723 (2), 9184241 (2), 10405447 (2) (see all 49)
skeletal dysplasia	85.4	39	18855621 (2), 9923655 (1), 17588960 (1), 11470401 (1) (see all 23)
osteoarthritis	83.1	87	17124839 (5), 8311563 (5), 19177799 (3), 9059144 (2) (see all 44)
osteochondrodysplasias	80.4	6	11008738 (1), 17579668 (1), 9756911 (1)
osteoarthritis knee	79.8	35	15940561 (2), 16707535 (2), 17657676 (2), 10555031 (1) (see all 17)
diastrophic dysplasia	77.4	5	8030664 (1), 11008738 (1), 8791509 (1), 8879993 (1)
rheumatoid arthritis	71.3	75	12823852 (3), 16707535 (3), 16485108 (2), 15940561 (2) (see all 33)
bone dysplasias	65.2	3	11087755 (2)
short stature	64.9	9	15552564 (2), 11691584 (1), 12483304 (1), 20033473 (1) (see all 5)

GeneTests: COMP

Pseudoachondroplasia

Multiple Epiphyseal Dysplasia, Dominant

Genetic Association Database (GAD): COMP
Human Genome Epidemiology (HuGE) Navigator: COMP (9 documents)

Export disorders for COMP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COMP gene, integrated from 9 sources (see all 379):
(articles sorted by number of sources associating them with COMP)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of human and mouse cartilage oligomeric matrix protein. (PubMed id 7713493)^{1, 2, 3, 9} Newton G.... Lawler J. (1994)
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. (PubMed id 17588949)^{1, 2, 7} Chen F.-H.... Lawler J. (2007)
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (PubMed id 15266613)^{1, 4, 9} Mabuchi A....Ikegawa S. (2004)
Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PubMed id 15075323)^{1, 2, 9} Mann H.H....Wagener R. (2004)
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes. (PubMed id 10852928)^{1, 2, 9} Chen H.... Lawler J. (2000)
Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. (PubMed id 11501943)^{1, 4, 9} Mabuchi A....Ikegawa S. (2001)
Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins. (PubMed id 17993464)^{1, 2, 9} Gagarina V.... Hall D.J. (2008)
Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis. (PubMed id 16542502)^{1, 2, 9} Koelling S.... Miosge N. (2006)
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. (PubMed id 11084047)^{1, 2, 9} Thur J.... Maurer P. (2001)
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (PubMed id 12483304)^{1, 4, 9} Mabuchi A....Ikegawa S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1311	HGNC: 2227	AceView: COMP	Ensembl:ENSG00000105664	euGenes: HUgn1311
ECgene: COMP	Kegg: 1311	H-InvDB: COMP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COMP	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP

Intellectual Property for COMP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COMP gene:
Search GeneIP for patents involving COMP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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Recombinant Protein for COMP

COMP Proteins, Antibodies, CLIAs, and ELISAs

Cell Lines associated with COMP: Chondrogenic Package 4D20.8,
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cartilage oligomeric matrix protein

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Pseudoachondroplasia
Osteoarthritis Knee
Chondrosarcoma
Arthritis Reactive
Prolapse
Autoimmune Diseases
Multiple Epiphyseal Dysplasia, Dominant
arthropathy
Genetic Susceptibility
Tetanus
Skeletal dysplasia
dysplasia
Osteoarthritis
Polyarthritis
Atherosclerosis
Osteoarthritis Hip
Dwarfism
Rheumatic Diseases
Thanatophoric Dysplasia
Myopathy
Cancer
Pancreatic Cancer
chronic pancreatitis
Arthritis Psoriatic
DIASTROPHIC DYSPLASIA
effusion
Multiple Epiphyseal Dysplasia
Osteochondrodysplasias
BRACHYDACTYLY
Polychondritis Relapsing
Inflammation
SHORT STATURE
OBESITY
skeletal disorder
PSACH
Hypertrophy
Rheumatoid Arthritis
Tumors
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Bone Dysplasias
Sclerosis Systemic
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Collagen fibril
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Lupus Erythematosus Systemic

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COMP Gene

cartilage oligomeric matrix protein

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